Canonical Allele Identifier: CA368981041

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1790046
• ClinVar RCV Id: RCV002448444
• MyVariant Identifiers: chr7:g.117232574C>G (hg19) ; chr7:g.117592520C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592520C>G , CM000669.2:g.117592520C>G	GRCh38
NC_000007.13:g.117232574C>G , CM000669.1:g.117232574C>G	GRCh37
NC_000007.12:g.117019810C>G	NCBI36
NG_016465.4:g.131737C>G , LRG_663:g.131737C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2353C>G	ENSP00000497673.2:p.Arg785Gly
ENST00000647978.2:c.*2067C>G	ENSP00000497658.1:n.*2067C>G
ENST00000649781.2:c.2170C>G	ENSP00000497203.1:p.Arg724Gly
ENST00000685018.2:c.2353C>G	ENSP00000510194.2:p.Arg785Gly
ENST00000687278.2:c.2353C>G	ENSP00000509593.2:p.Arg785Gly
ENST00000699585.1:c.2353C>G	ENSP00000514456.1:p.Arg785Gly
ENST00000699598.1:c.2353C>G	ENSP00000514467.1:p.Arg785Gly
ENST00000699599.1:c.2353C>G	ENSP00000514468.1:p.Arg785Gly
ENST00000699600.1:c.2353C>G	ENSP00000514469.1:p.Arg785Gly
ENST00000699601.1:c.*653C>G	ENSP00000514470.1:n.*653C>G
ENST00000699602.1:c.2353C>G	ENSP00000514471.1:p.Arg785Gly
ENST00000699604.1:c.*2177C>G	ENSP00000514472.1:n.*2177C>G
ENST00000699605.1:c.1927C>G	ENSP00000514473.1:p.Arg643Gly
ENST00000003084.11:c.2353C>G MANE Select	ENSP00000003084.6:p.Arg785Gly
ENST00000647720.1:c.3C>G
ENST00000647978.1:c.*2067C>G	ENSP00000497658.1:n.*2067C>G
ENST00000648260.1:c.1402-10306C>G	ENSP00000497957.1:n.1402-10306C>G
ENST00000649406.1:c.2170C>G	ENSP00000497965.1:p.Arg724Gly
ENST00000649781.1:c.2170C>G	ENSP00000497203.1:p.Arg724Gly
ENST00000003084.10:c.2353C>G	ENSP00000003084.6:p.Arg785Gly
ENST00000426809.5:c.2263C>G	ENSP00000389119.1:p.Arg755Gly
NM_000492.3:c.2353C>G , LRG_663t1:c.2353C>G	NP_000483.3:p.Arg785Gly
XM_011515751.1:c.2443C>G	XP_011514053.1:p.Arg815Gly
XM_011515752.1:c.2443C>G	XP_011514054.1:p.Arg815Gly
XM_011515753.1:c.2110C>G	XP_011514055.1:p.Arg704Gly
XM_011515754.1:c.2110C>G	XP_011514056.1:p.Arg704Gly
NM_000492.4:c.2353C>G MANE Select	NP_000483.3:p.Arg785Gly